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pro vyhledávání: '"Renata Cermakova"'
Autor:
Agnieszka Jurecka, Vaclava Skopova, Vaclava Adamkova, Marie Zikanova, Jakub Krijt, Renata Cermakova, Stanislav Kmoch
Publikováno v:
Clinical biochemistry. 46(18)
Objectives Adenylosuccinate lyase deficiency (dADSL) is a rare inherited metabolic disorder. Biochemical diagnosis of the disease is based on the determination of enormously elevated urinary levels of succinylaminoimidazole carboxamide riboside (SAIC